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  2. Apert syndrome - Wikipedia

    en.wikipedia.org/wiki/Apert_syndrome

    Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch , the precursor of the maxilla and mandible .

  3. Crouzon syndrome - Wikipedia

    en.wikipedia.org/wiki/Crouzon_syndrome

    Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Because the branchial arches are important developmental features in a growing embryo, disturbances in their development ...

  4. Hearing loss with craniofacial syndromes - Wikipedia

    en.wikipedia.org/wiki/Hearing_loss_with...

    Patients with Crouzon syndrome sometimes exhibit malformations of the external ear and/or the middle ear, such as malalignment of the pinna (Peterson-Falzone et al., 2001). Literature has suggested that persons with Crouzon syndrome typically have conductive hearing loss caused by middle ear effusion (or fluid in the middle ear) and perforation ...

  5. Acrocephalosyndactyly - Wikipedia

    en.wikipedia.org/wiki/Acrocephalosyndactyly

    Acrocephalosyndactyly. Acrocephalosyndactyly is a group of congenital conditions characterized by irregular features of the face and skull ( craniosynostosis) and hands and feet ( syndactyly ). [1] Craniosynostosis occurs when the cranial sutures, the fibrous tissue connecting the skull bones, fuse the cranial bones early in development.

  6. Fibroblast growth factor receptor 2 - Wikipedia

    en.wikipedia.org/wiki/Fibroblast_growth_factor...

    This mechanism is found in patients with Crouzon and Pfeiffer syndrome. The second, which is associated with Apert syndrome is a loss of specificity of the FGFR2 ...

  7. Craniosynostosis - Wikipedia

    en.wikipedia.org/wiki/Craniosynostosis

    Crouzon syndrome: craniofacial abnormalities with bilateral coronal suture fusion; anterior and posterior of skull shortness, flat cheek bones and a flat nose. Jackson-Weiss syndrome : craniosynostosis with midfacial hypoplasia and foot anomalies.

  8. Pfeiffer syndrome - Wikipedia

    en.wikipedia.org/wiki/Pfeiffer_syndrome

    Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the skull (craniosynostosis), which affects the shape of the head and face. The syndrome includes abnormalities of the hands and feet, such as wide and deviated thumbs and big toes.

  9. Turricephaly - Wikipedia

    en.wikipedia.org/wiki/Turricephaly

    Turricephaly is a type of cephalic disorder where the head appears tall with a small length and width. [3] [4] It is due to premature closure of the coronal suture plus any other suture, like the lambdoid, [5] or it may be used to describe the premature fusion of all sutures. [2] It should be differentiated from Crouzon syndrome.